Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.

ABSTRACT:

Purpose

Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR.

Methods

To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members by using Sanger sequencing and quantitative real-time PCR (QPCR).

Results

Of the cohort of ten FEVR families, six pathogenic variants

SUBMITTER: Huang XY 

PROVIDER: S-EPMC5568910 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature